Researchers Uncover Genetic Links to SWS, Port-Wine Birthmarks

1. Researchers Uncover Genetic
Links to SWS, Port-Wine
Birthmarks

2. Based in Cary, North Carolina, Kenneth R.
Kulp, MD, has served as a dermatologist for
nearly 35 years. A member of the American
Society for Dermatologic Surgery and the
Skin Cancer Foundation, Dr. Kenneth Kulp is
interested the latest advancements in
dermatology.

3. In May 2013, scientists from Kennedy Krieger
Institute in Maryland made an important discovery in
understanding port-wine birthmarks and the
neurological/dermatological disease known as
Sturge-Weber syndrome (SWS). While SWS affects
one out of every 20,000 U.S. births and port-wine
birthmarks affect a larger percentage of the
population, the researchers found that both
conditions emerge from the same genetic mutation,
which occurs prior to birth. Published in the New
England Journal of Medicine, the study identified a
mutation in the DNA of the GNAQ gene. After the
initial sample, researchers recognized that 23 out of
26 persons with SWS and 12 out of 13 persons with
port-wine birthmarks presented the same mutation.
Moreover, the GNAQ gene is linked to uveal
melanoma, which affects the eyes.

4. Whereas most current treatments are limited
to controlling symptoms, the new information
could help develop targeted medications
focused on the gene and produce
significantly greater results. Those involved in
the study considered it a landmark event in
caring for individuals with SWS and port-wine
birthmarks.